Variant report

Variant	rs132354
Chromosome Location	chr22:29595436-29595437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs132308	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs132311	0.83[ASN][1000 genomes]
rs132312	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs132313	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs132314	0.82[EUR][1000 genomes]
rs132315	0.82[EUR][1000 genomes]
rs132316	0.82[EUR][1000 genomes]
rs132317	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs132321	0.82[EUR][1000 genomes]
rs132323	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs132341	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs132348	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs132350	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs132351	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs132363	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs132366	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132367	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132370	0.94[EUR][1000 genomes]
rs132373	1.00[EUR][1000 genomes]
rs132378	1.00[EUR][1000 genomes]
rs132380	0.89[EUR][1000 genomes]
rs4380342	0.83[ASN][1000 genomes]
rs469984	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs469985	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs713924	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
2	chr22:29588000-29598200	Weak transcription	Fetal Brain Male	brain
3	chr22:29589600-29597800	Weak transcription	Fetal Intestine Large	intestine
4	chr22:29591600-29595800	Weak transcription	Fetal Intestine Small	intestine
5	chr22:29592000-29597800	Weak transcription	Fetal Lung	lung
6	chr22:29592200-29595600	Weak transcription	Dnd41	blood
7	chr22:29592200-29596400	Weak transcription	Spleen	Spleen
8	chr22:29592200-29597000	Weak transcription	Fetal Thymus	thymus
9	chr22:29592200-29598000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:29592400-29597000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr22:29592400-29598000	Weak transcription	Left Ventricle	heart
12	chr22:29592400-29598200	Weak transcription	Lung	lung
13	chr22:29592600-29595600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:29592600-29597600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:29592800-29595600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:29593200-29595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:29593400-29597800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29593600-29597200	Weak transcription	K562	blood
19	chr22:29594000-29598000	Weak transcription	Small Intestine	intestine
20	chr22:29594800-29600800	Weak transcription	Pancreas	Pancrea
21	chr22:29595400-29597600	Enhancers	GM12878-XiMat	blood

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